Citation

Judson RN, Wackerhage H, Hughes A, Mavroeidi A, Barr RJ, Macdonald HM, Ratkevicius A, Reid DM, Hocking LJ. J. Gerontol. A Biol. Sci. Med. Sci. 2011; 66(1): 130-135.

Affiliation

Musculoskeletal Research Programme, Division of Applied Medicine, Institute of Medical Sciences, University of Aberdeen, Aberdeen AB25 2ZD, UK. l.hocking@abdn.ac.uk.

Copyright

(Copyright © 2011, Gerontological Society of America)

DOI

10.1093/gerona/glq189

PMID

20966103

Abstract

BACKGROUND: Falls among elderly people is a major issue in public health, causing debilitating outcomes including fracture. The identification of genetic risk factors for falling may provide a strategy for effectively targeting falls prevention programs. We investigated whether a common functional variant of skeletal muscle α-actinin-3 (ACTN3 p. R577X) previously associated with impairments in muscle strength, power, and physical functioning represents a risk factor for falls. METHODS: Case-control analysis was conducted using two large cohorts of Caucasian postmenopausal women-the North of Scotland Osteoporosis Study (n = 1,245) and the Aberdeen Prospective Osteoporosis Screening Study (n = 2,918)-for whom self-reported falls status and DNA samples were available. Cross-sectional analysis of fallers versus nonfallers at baseline and follow-up was performed. In addition, individuals who reported having fallen at more than one timepoint (recurrent fallers) were compared with those who reported not falling at any timepoint. RESULTS: Association between R577X genotype and falls was identified and validated. Carriage of 577X (one or two copies) was significantly associated with a 33% (10%-61%) increased risk of falling, with the effect apparent at both baseline and follow-up assessments (meta-analysis p = .003 and p = .02, respectively). No significant effect on recurrent falls was observed. CONCLUSION: This study reports for the first time that the functional ACTN3 R577X genotype represents a genetic risk factor for falling in older females.

Language: en